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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP3D1

Variant:p.G620Splc

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AP3D1

NM_001261826.3:p.G620Splc

hg38:chr19:2117221 C>A

Associated Papers

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation.

Balaraddi V et al.

Oxford Medical Case Reports, 2025

41025021 (PubMed )

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